/neuronopathy, distal hereditary motor, autosomal recessive 3

neuronopathy, distal hereditary motor, autosomal recessive 3

Rare Disease

MONDO:0011771

Also Known As

autosomal recessive distal spinal muscular atrophy type 3dHMN3 and dHMN4dSMA3distal hereditary motor neuropathy type 3 and type 4distal spinal muscular atrophy type 3spinal muscular atrophy, chronic distal, autosomal recessiveHMN 3HMN 4dHMN3dHMN4neuronopathy, distal hereditary motor, type 3neuronopathy, distal hereditary motor, type 4neuropathy, distal hereditary motor, type 4spinal muscular atrophy, distal, autosomal recessive, 3

Definition

A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.